Canonical Allele Identifier: CA1928774409
Community Standard Title: NM_005097.4(LGI1):c.953T= (p.Phe318=)
Gene: LGI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.93797082T= , CM000672.2:g.93797082T= GRCh38
NC_000010.10:g.95556839T= , CM000672.1:g.95556839T= GRCh37
NC_000010.9:g.95546829T= NCBI36
NG_011832.1:g.44274T=

Transcript Alleles

HGVS Amino-acid Change
NM_005097.4:c.953T= MANE Select NP_005088.1:p.Phe318=
ENST00000371418.9:c.953T= MANE Select ENSP00000360472.4:p.Phe318=
NM_001308275.1:c.839-667T= NP_001295204.1:n.839-667T=
NM_001308275.2:c.839-667T= NP_001295204.1:n.839-667T=
NM_001308276.1:c.809T= NP_001295205.1:p.Phe270=
NM_001308276.2:c.809T= NP_001295205.1:p.Phe270=
NM_005097.2:c.953T= NP_005088.1:p.Phe318=
NM_005097.3:c.953T= NP_005088.1:p.Phe318=
NR_131777.1:n.1217T=
NR_131777.2:n.1090T=
ENST00000371413.4:c.839-667T= ENSP00000360467.3:n.839-667T=
ENST00000371418.8:c.953T= ENSP00000360472.4:p.Phe318=
ENST00000485458.3:n.4929T=
ENST00000626307.1:n.4868T=
ENST00000627420.2:c.*662T= ENSP00000487116.1:n.*662T=
ENST00000629035.2:c.881T= ENSP00000486908.1:p.Phe294=
ENST00000630047.2:c.809T= ENSP00000485917.1:p.Phe270=
ENST00000635804.1:n.387T=
ENST00000635953.1:c.*375T= ENSP00000490058.1:n.*375T=
ENST00000636155.1:c.838+3732T= ENSP00000490355.1:n.838+3732T=
ENST00000636232.1:c.*739T= ENSP00000490325.1:n.*739T=
ENST00000636754.1:c.*795T= ENSP00000489781.1:n.*795T=
ENST00000636946.1:c.*1008-667T= ENSP00000490654.1:n.*1008-667T=
ENST00000637037.1:c.*543T= ENSP00000490860.1:n.*543T=
ENST00000637347.1:n.814T=
ENST00000637611.1:c.*509T= ENSP00000489682.1:n.*509T=
ENST00000637689.1:c.-419T= ENSP00000490496.1:n.-419T=
ENST00000637925.1:c.*548T= ENSP00000489763.1:n.*548T=
ENST00000638049.1:c.*711T= ENSP00000490597.1:n.*711T=
ENST00000676175.1:n.2692T=
XM_017016912.2:c.695-667T= XP_016872401.1:n.695-667T=